Incidental Mutation 'R4113:Hrh3'
| ID |
314495 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hrh3
|
| Ensembl Gene |
ENSMUSG00000039059 |
| Gene Name |
histamine receptor H3 |
| Synonyms |
Eae8 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.313)
|
| Stock # |
R4113 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
179741258-179746264 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 179744643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 99
(R99L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056480]
[ENSMUST00000163215]
[ENSMUST00000164442]
[ENSMUST00000165248]
[ENSMUST00000165762]
[ENSMUST00000166724]
[ENSMUST00000171736]
|
| AlphaFold |
P58406 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056480
AA Change: R99L
PolyPhen 2
Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000049963
Gene: ENSMUSG00000039059
AA Change: R99L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
50 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
51 |
412 |
7.2e-65 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163215
AA Change: R99L
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127053
Gene: ENSMUSG00000039059
AA Change: R99L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
50 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
51 |
376 |
2e-55 |
PFAM |
|
low complexity region
|
406 |
415 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164442
AA Change: R99L
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000130553
Gene: ENSMUSG00000039059
AA Change: R99L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
50 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
51 |
380 |
4.8e-65 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165248
AA Change: R99L
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000130181
Gene: ENSMUSG00000039059
AA Change: R99L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
50 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
51 |
364 |
6.9e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165762
AA Change: R99L
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000132203
Gene: ENSMUSG00000039059
AA Change: R99L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
50 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
51 |
412 |
1.3e-64 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166392
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166724
|
| SMART Domains |
Protein: ENSMUSP00000126336
Gene: ENSMUSG00000039059
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
50 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
51 |
93 |
1.8e-8 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171736
AA Change: R99L
PolyPhen 2
Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000127085
Gene: ENSMUSG00000039059
AA Change: R99L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
50 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
51 |
239 |
5.2e-45 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172211
|
| Meta Mutation Damage Score |
0.1222 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. This gene encodes one of the histamine receptors (H3) which belongs to the family 1 of G protein-coupled receptors. It is an integral membrane protein and can regulate neurotransmitter release. This receptor can also increase voltage-dependent calcium current in smooth muscles and innervates the blood vessels and the heart in cardiovascular system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced locomotor activity and body temperature, and attenuated behavioral responses to the drugs thioperamide, methamphetamine, and scopolamine. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bace2 |
A |
G |
16: 97,237,856 (GRCm39) |
T436A |
probably benign |
Het |
| BC024139 |
A |
G |
15: 76,005,827 (GRCm39) |
M458T |
probably benign |
Het |
| Casp2 |
G |
A |
6: 42,244,828 (GRCm39) |
A76T |
probably damaging |
Het |
| Catsper3 |
A |
G |
13: 55,934,183 (GRCm39) |
K35E |
probably damaging |
Het |
| Ccdc88c |
A |
G |
12: 100,911,332 (GRCm39) |
L34P |
probably damaging |
Het |
| Dcaf13 |
T |
A |
15: 38,993,615 (GRCm39) |
I236N |
probably damaging |
Het |
| Dip2c |
G |
T |
13: 9,687,137 (GRCm39) |
G1254C |
probably damaging |
Het |
| Dnah12 |
T |
C |
14: 26,414,722 (GRCm39) |
L41P |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,003,420 (GRCm39) |
K514R |
possibly damaging |
Het |
| Dnajb12 |
T |
A |
10: 59,730,136 (GRCm39) |
S270R |
possibly damaging |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Eya4 |
G |
T |
10: 23,031,849 (GRCm39) |
S235Y |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Gdf3 |
A |
G |
6: 122,584,016 (GRCm39) |
I117T |
probably damaging |
Het |
| Gm5611 |
T |
A |
9: 16,941,989 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf3c4 |
G |
A |
2: 28,717,567 (GRCm39) |
T771I |
probably damaging |
Het |
| Hyls1 |
T |
A |
9: 35,472,714 (GRCm39) |
Y234F |
probably damaging |
Het |
| Irak1bp1 |
T |
C |
9: 82,728,728 (GRCm39) |
S220P |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,071,698 (GRCm39) |
V862I |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Or14a258 |
G |
A |
7: 86,035,733 (GRCm39) |
T45M |
possibly damaging |
Het |
| Or4b12 |
A |
T |
2: 90,096,684 (GRCm39) |
L30H |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,004,953 (GRCm39) |
D927G |
probably damaging |
Het |
| Prelid3a |
T |
C |
18: 67,605,967 (GRCm39) |
Y25H |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 67,032,808 (GRCm39) |
D1015G |
probably damaging |
Het |
| Rhox3f |
G |
T |
X: 36,763,672 (GRCm39) |
E140* |
probably null |
Het |
| Riox2 |
C |
T |
16: 59,312,257 (GRCm39) |
L465F |
probably benign |
Het |
| Sec31b |
G |
T |
19: 44,512,968 (GRCm39) |
T507N |
possibly damaging |
Het |
| Stab1 |
C |
T |
14: 30,890,436 (GRCm39) |
R5Q |
probably damaging |
Het |
| Stmn3 |
T |
C |
2: 180,949,089 (GRCm39) |
K135E |
possibly damaging |
Het |
| Synj2 |
G |
A |
17: 6,058,240 (GRCm39) |
G243S |
probably benign |
Het |
| Tasor |
C |
T |
14: 27,181,918 (GRCm39) |
R483* |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tshz2 |
C |
A |
2: 169,727,450 (GRCm39) |
P213Q |
probably benign |
Het |
| Tssk4 |
A |
G |
14: 55,887,830 (GRCm39) |
T9A |
probably benign |
Het |
| Ube4a |
T |
A |
9: 44,860,247 (GRCm39) |
I272F |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,025,629 (GRCm39) |
C339R |
probably damaging |
Het |
| Vmn2r87 |
T |
C |
10: 130,315,691 (GRCm39) |
D125G |
probably benign |
Het |
| Yap1 |
A |
T |
9: 7,938,432 (GRCm39) |
*358K |
probably null |
Het |
| Zfp992 |
C |
T |
4: 146,551,976 (GRCm39) |
H566Y |
probably damaging |
Het |
|
| Other mutations in Hrh3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01652:Hrh3
|
APN |
2 |
179,742,896 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01827:Hrh3
|
APN |
2 |
179,745,739 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01912:Hrh3
|
APN |
2 |
179,743,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02992:Hrh3
|
APN |
2 |
179,742,608 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL03273:Hrh3
|
APN |
2 |
179,742,441 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1403:Hrh3
|
UTSW |
2 |
179,744,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1403:Hrh3
|
UTSW |
2 |
179,744,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1808:Hrh3
|
UTSW |
2 |
179,741,577 (GRCm39) |
unclassified |
probably benign |
|
|
R2060:Hrh3
|
UTSW |
2 |
179,743,043 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4110:Hrh3
|
UTSW |
2 |
179,744,643 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4111:Hrh3
|
UTSW |
2 |
179,744,643 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4330:Hrh3
|
UTSW |
2 |
179,741,665 (GRCm39) |
unclassified |
probably benign |
|
|
R4935:Hrh3
|
UTSW |
2 |
179,743,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5050:Hrh3
|
UTSW |
2 |
179,742,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5543:Hrh3
|
UTSW |
2 |
179,745,763 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5780:Hrh3
|
UTSW |
2 |
179,742,608 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7571:Hrh3
|
UTSW |
2 |
179,743,079 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8699:Hrh3
|
UTSW |
2 |
179,743,149 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9603:Hrh3
|
UTSW |
2 |
179,742,444 (GRCm39) |
nonsense |
probably null |
|
|
R9698:Hrh3
|
UTSW |
2 |
179,743,206 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTATAACTCAGGAGCAGCC -3'
(R):5'- ATGGCAGCTGCTCAGTTGTAG -3'
Sequencing Primer
(F):5'- AGCCATACCCTGTCCAGTG -3'
(R):5'- CTGCTCAGTTGTAGGGGGACAG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation